Q14D04
PR
Gene name |
VEPH1 (KIAA1692, VEPH) |
Protein name |
Ventricular zone-expressed PH domain-containing protein homolog 1 |
Names |
Protein melted |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79674 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q14D04
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14D04-F1 | Predicted | AlphaFoldDB |
727 variants for Q14D04
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2680938 rs758377969 |
2 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373381778 CA2680939 |
2 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355173709 rs1277397746 |
4 | L>V | No |
ClinGen TOPMed |
|
|
CA2680937 rs750327217 |
5 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA355173683 rs1269369382 |
8 | V>D | No |
ClinGen gnomAD |
|
|
rs778742689 CA2680936 |
10 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA2680935 rs757028210 |
13 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246186678 COSM1040435 COSM1593392 CA355173652 |
13 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA85927209 rs964985069 |
15 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200324023 CA2680934 |
16 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767571715 CA2680933 |
16 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173558311 CA355173628 |
17 | A>D | No |
ClinGen TOPMed |
|
|
rs1394651161 CA355173622 |
18 | G>E | No |
ClinGen TOPMed |
|
|
rs1300325724 CA355173615 |
19 | D>G | No |
ClinGen TOPMed |
|
|
CA2680930 rs766547393 |
21 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA85927194 rs758853957 |
22 | S>Y | No |
ClinGen Ensembl |
|
|
CA355173579 rs1332767304 |
24 | D>E | No |
ClinGen TOPMed |
|
|
CA355173581 rs1462611826 |
24 | D>V | No |
ClinGen Ensembl |
|
|
rs770340716 CA2680926 |
25 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770340716 CA355173577 |
25 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1156451280 CA355173561 |
27 | E>G | No |
ClinGen gnomAD |
|
|
rs762200732 CA2680925 |
28 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1429706242 CA355173547 |
29 | E>G | No |
ClinGen gnomAD |
|
|
rs768144237 CA355173526 |
32 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2680923 rs768144237 |
32 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA355173517 rs1187062371 |
33 | T>I | No |
ClinGen gnomAD |
|
|
rs376272538 CA2680921 |
35 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2680920 rs376272538 |
35 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355173495 rs1345533480 |
37 | E>Q | No |
ClinGen TOPMed |
|
|
rs778760832 CA2680918 |
38 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA355173474 rs1265382860 |
40 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1222001372 CA355173462 |
41 | I>K | No |
ClinGen gnomAD |
|
|
CA355173453 rs1311991642 |
42 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1487669073 CA355173450 |
42 | I>N | No |
ClinGen TOPMed |
|
|
rs1296855565 CA355173405 |
45 | S>T | No |
ClinGen gnomAD |
|
|
rs757053819 CA2680917 |
46 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 47 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433166102 CA355171756 |
47 | D>N | No |
ClinGen gnomAD |
|
|
rs780444827 CA2680876 |
50 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA85918108 rs150827179 |
50 | T>S | No |
ClinGen ESP TOPMed |
|
|
rs1337657427 CA355171727 |
51 | N>D | No |
ClinGen gnomAD |
|
|
rs369417596 CA2680875 |
51 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369417596 CA2680874 |
51 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2680873 rs779197988 |
52 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1157274291 CA355171713 |
53 | N>Y | No |
ClinGen TOPMed |
|
|
CA355171705 rs1172477437 |
54 | D>H | No |
ClinGen gnomAD |
|
|
CA2680869 rs754309822 |
56 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757344143 CA2680870 |
56 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA355171688 rs754309822 |
56 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 57 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447132648 CA355171678 |
58 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778273317 CA2680868 |
58 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318213958 CA355171656 |
61 | C>F | No |
ClinGen gnomAD |
|
|
CA2680867 rs756470104 |
61 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2680866 rs529751956 |
62 | I>V | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 64 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051015183 CA85918069 |
68 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1276291821 CA355171534 |
69 | I>T | No |
ClinGen gnomAD |
|
|
rs1443888636 CA355171541 |
69 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 71 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85918058 rs1050578277 |
72 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA85918061 rs1050578277 |
72 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2680863 rs751210034 |
73 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 75 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1040035311 CA85918050 |
75 | I>V | No |
ClinGen TOPMed |
|
|
rs765865276 CA2680862 |
78 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA2680860 rs773028195 |
79 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA355171343 rs1339049684 |
81 | A>S | No |
ClinGen gnomAD |
|
|
rs1560089852 CA355171335 |
81 | A>V | No |
ClinGen Ensembl |
|
|
rs761820097 CA2680858 |
82 | L>P | No |
ClinGen ExAC |
|
|
rs776606873 CA2680857 |
84 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746147498 CA2680855 |
85 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474448921 CA355171276 |
86 | W>* | No |
ClinGen gnomAD |
|
|
CA2680854 rs779136906 |
87 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA355171233 rs1427208131 |
88 | S>F | No |
ClinGen gnomAD |
|
|
CA355171243 rs1560089774 |
88 | S>P | No |
ClinGen Ensembl |
|
|
CA355171210 rs770916191 |
90 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA2680852 rs375134322 |
91 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs548131156 CA2680851 |
92 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2680849 rs532806977 |
93 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2680847 rs139169472 COSM1729358 COSM1729359 |
96 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs781606861 CA2680848 |
96 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781606861 CA355171111 |
96 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565482063 CA85917998 |
97 | F>L | No |
ClinGen 1000Genomes |
|
|
rs1292663589 CA355171091 |
97 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1314883993 CA355171056 |
99 | K>R | No |
ClinGen TOPMed |
|
|
CA2680843 rs749997490 |
101 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2680841 rs761906359 |
102 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761906359 CA2680842 |
102 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355171004 COSM1232256 COSM1232257 rs1352736835 |
103 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2680838 rs146517115 |
104 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355170995 rs146517115 |
104 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771139337 CA2680836 |
105 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85917962 rs200511674 |
106 | A>E | No |
ClinGen Ensembl |
|
|
rs773384515 CA2680834 |
108 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA355170941 rs1411108307 |
108 | I>V | No |
ClinGen gnomAD |
|
|
CA2680833 rs769862950 |
109 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680832 rs748713951 |
111 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1479493475 CA355170885 |
113 | M>L | No |
ClinGen TOPMed |
|
|
rs1179901933 CA355170875 |
113 | M>R | No |
ClinGen gnomAD |
|
|
rs1179901933 CA355170877 |
113 | M>T | No |
ClinGen gnomAD |
|
|
CA85917949 rs967406952 |
115 | C>* | No |
ClinGen TOPMed |
|
|
rs1257545031 CA355170819 |
118 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 118 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1027808184 CA85917946 |
118 | Q>R | No |
ClinGen gnomAD |
|
|
CA2680811 rs562279963 |
119 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355170788 rs1273789306 |
121 | N>H | No |
ClinGen gnomAD |
|
|
rs1014099198 CA85914568 |
121 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA355170784 rs1294269816 |
121 | N>S | No |
ClinGen TOPMed |
|
|
CA2680810 COSM1580320 rs551368277 COSM1580321 |
122 | R>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs142394743 CA2680809 |
122 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142394743 CA2680808 |
122 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456466295 CA355170778 |
123 | P>T | No |
ClinGen gnomAD |
|
|
CA355170770 rs1359560304 |
124 | P>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550229592 CA2680806 |
129 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355170738 rs550229592 |
129 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85914548 rs765857166 |
132 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680805 rs765857166 |
132 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355170702 rs1208378235 |
135 | K>* | No |
ClinGen gnomAD |
|
|
rs201356961 CA85914539 |
136 | F>L | No |
ClinGen TOPMed |
|
|
rs1245715040 CA355170684 |
137 | L>R | No |
ClinGen TOPMed |
|
|
CA355170668 rs1489746212 |
140 | G>R | No |
ClinGen TOPMed |
|
|
rs1478741590 CA355170625 |
146 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969808683 CA85914525 |
151 | Y>C | No |
ClinGen TOPMed |
|
|
CA85914533 rs983883914 |
151 | Y>N | No |
ClinGen TOPMed |
|
|
rs765405544 CA2680799 |
154 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2680800 rs201646554 |
154 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1228422984 CA355170564 |
155 | A>V | No |
ClinGen gnomAD |
|
|
CA355170558 rs1158998901 |
156 | A>E | No |
ClinGen TOPMed |
|
|
rs1560079351 CA355170554 |
157 | I>V | No |
ClinGen Ensembl |
|
|
rs143737323 CA355170544 |
158 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143737323 CA2680798 |
158 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2680796 rs768715887 |
159 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1238914335 CA355170536 |
160 | A>S | No |
ClinGen gnomAD |
|
|
CA355170525 rs1304433410 |
161 | D>E | No |
ClinGen gnomAD |
|
|
rs1165955771 CA355170527 |
161 | D>G | No |
ClinGen TOPMed |
|
|
rs761302176 CA355170530 |
161 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2680795 rs761302176 |
161 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs772486085 CA2680793 |
163 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680792 rs746174622 |
164 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201991529 CA355170502 |
165 | D>E | No |
ClinGen gnomAD |
|
|
CA2680791 rs778727772 |
167 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355170491 rs1431659998 |
167 | T>P | No |
ClinGen gnomAD |
|
|
rs777494325 CA2680788 |
168 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761722025 CA85914469 |
170 | I>M | No |
ClinGen Ensembl |
|
|
rs1258693024 CA355170464 |
171 | V>A | No |
ClinGen gnomAD |
|
|
CA355170468 rs1560079146 |
171 | V>I | No |
ClinGen Ensembl |
|
|
CA2680787 rs755570266 |
172 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752696524 CA2680786 |
173 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA355170453 rs1233919676 |
173 | S>N | No |
ClinGen gnomAD |
|
|
rs1207963741 CA355170445 |
174 | I>T | No |
ClinGen gnomAD |
|
|
CA85914458 rs944920682 |
174 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2680785 rs780925524 |
175 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766142185 CA2680782 |
176 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680783 rs766142185 |
176 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560079008 CA355170435 |
176 | Q>R | No |
ClinGen Ensembl |
|
|
CA85914437 rs776525341 |
177 | G>R | No |
ClinGen TOPMed |
|
|
CA355172123 rs1205162152 |
178 | N>I | No |
ClinGen TOPMed |
|
|
rs766282802 CA2680492 |
179 | T>I | No |
ClinGen ExAC |
|
|
rs796214676 CA85907038 |
180 | M>T | No |
ClinGen gnomAD |
|
|
CA355172103 rs1237152386 |
181 | L>* | No |
ClinGen TOPMed |
|
|
rs1237587052 CA355172107 |
181 | L>V | No |
ClinGen gnomAD |
|
|
CA355172093 rs1326264964 |
183 | R>G | No |
ClinGen gnomAD |
|
|
CA2680490 rs762800839 |
184 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA355172075 rs1577632196 |
185 | L>F | No |
ClinGen Ensembl |
|
|
rs777020042 CA2680489 |
186 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188484210 CA355172064 |
187 | A>V | No |
ClinGen TOPMed |
|
|
CA355172035 rs1577632165 |
191 | K>N | No |
ClinGen Ensembl |
|
|
rs1157042350 CA355172021 |
193 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2680487 rs747171337 |
193 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA85907025 rs927678938 |
194 | Q>* | No |
ClinGen Ensembl |
|
|
rs1439245557 CA355172013 |
195 | P>A | No |
ClinGen gnomAD |
|
|
rs1395935883 CA355172006 |
196 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2680486 rs775693133 |
197 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355171996 rs775693133 |
197 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680485 rs771985108 |
198 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577632082 CA355171982 |
199 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 202 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746387347 CA355171962 CA2680484 |
202 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1447068300 CA355171959 |
203 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1447068300 CA355171961 |
203 | L>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 205 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs950330331 CA85907012 |
206 | L>* | No |
ClinGen TOPMed |
|
|
CA2680482 rs144692384 |
207 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355171928 rs1363907944 |
208 | S>A | No |
ClinGen TOPMed |
|
|
VAR_034692 CA2680481 rs34559487 |
208 | S>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2680480 rs778078317 |
209 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1427641910 CA355171923 |
209 | Q>P | No |
ClinGen Ensembl |
|
|
rs1577631969 CA355171906 |
211 | E>D | No |
ClinGen Ensembl |
|
|
CA355171892 rs1236180264 |
213 | P>L | No |
ClinGen gnomAD |
|
|
CA2680478 rs370375816 |
216 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777340057 CA355171862 |
217 | H>Q | No |
ClinGen Ensembl |
|
|
CA355171866 rs1220201033 COSM1420257 |
217 | H>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs754379298 CA2680476 |
220 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680477 rs149345647 |
220 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1577631861 CA355171842 |
221 | L>R | No |
ClinGen Ensembl |
|
|
CA2680474 rs766374612 |
223 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762966806 CA2680473 |
224 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1452942041 CA355171817 |
225 | A>V | No |
ClinGen gnomAD |
|
|
rs541796202 CA2680472 |
226 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355171812 rs1242858260 |
226 | A>V | No |
ClinGen TOPMed |
|
|
rs1187614114 CA355171808 |
227 | K>R | No |
ClinGen gnomAD |
|
| rs1240884977 | 230 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85906897 rs35911360 |
232 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA2680468 rs35911360 |
232 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758480216 CA2680455 |
235 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355171629 rs758480216 |
235 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952882315 CA85900222 |
236 | K>N | No |
ClinGen TOPMed |
|
|
CA2680454 rs750325731 |
236 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1218003125 CA355171600 |
237 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680452 rs150762349 |
240 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394382128 CA355171551 |
241 | L>P | No |
ClinGen gnomAD |
|
|
rs752982625 CA2680451 |
242 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs759773121 CA2680449 |
244 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs767680165 CA2680450 |
244 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 246 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680448 rs774479665 |
247 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355171491 rs1242970859 |
247 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA355171456 rs1170585605 |
250 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 252 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680447 rs142231099 |
253 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2680446 rs763466522 |
254 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs773644795 CA2680445 |
254 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1421577746 CA355171398 |
255 | L>Q | No |
ClinGen gnomAD |
|
|
CA85900138 rs894747990 |
257 | I>M | No |
ClinGen TOPMed |
|
|
rs770225889 CA2680444 |
257 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748414045 CA2680443 |
258 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs374254464 CA2680440 |
259 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2680441 rs768238298 |
259 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781602189 CA2680442 |
259 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2680439 rs779771781 |
260 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 261 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_034693 rs1378796 CA2680438 |
263 | V>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2680435 rs115836982 |
264 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115836982 CA2680436 |
264 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745827847 CA2680437 |
264 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2680434 rs753616027 |
265 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1577597313 CA355171292 |
266 | P>T | No |
ClinGen Ensembl |
|
|
CA355171267 rs755212170 |
268 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2680432 rs755212170 |
268 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1397273687 CA355171252 |
269 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 270 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_034694 CA2680431 rs1378795 |
271 | S>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355171217 rs1577597238 |
272 | F>S | No |
ClinGen Ensembl |
|
|
CA355171209 rs1455914705 |
273 | L>I | No |
ClinGen gnomAD |
|
|
CA355171194 rs1159376334 |
274 | P>Q | No |
ClinGen gnomAD |
|
|
rs1367445353 CA355171198 |
274 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs138076442 CA2680429 |
275 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766451594 CA2680430 |
275 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404423205 CA355171134 |
279 | I>M | No |
ClinGen TOPMed |
|
|
rs1177730376 CA355171138 |
279 | I>T | No |
ClinGen gnomAD |
|
|
rs1454576243 CA355171131 |
280 | G>R | No |
ClinGen gnomAD |
|
|
CA355171124 rs1269343430 |
280 | G>V | No |
ClinGen gnomAD |
|
|
CA2680428 rs773732652 |
282 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1400969894 CA355171069 |
285 | Y>C | No |
ClinGen gnomAD |
|
|
CA355171034 rs1261316415 |
288 | G>E | No |
ClinGen gnomAD |
|
|
CA355171030 rs1261316415 |
288 | G>V | No |
ClinGen gnomAD |
|
|
rs202085076 CA2680426 |
290 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs914296443 CA85900027 |
290 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1351720334 CA355170996 |
291 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2680425 rs750986213 |
294 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769055532 CA2680424 |
296 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA355170925 rs746660917 |
297 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs746660917 CA2680423 |
297 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2680422 rs775239559 |
298 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs745417550 CA2680420 |
299 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA85899993 rs534715116 |
300 | V>M | No |
ClinGen 1000Genomes |
|
|
rs1421014683 CA355170876 |
301 | D>N | No |
ClinGen gnomAD |
|
|
CA2680407 rs560421888 |
305 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2680406 rs761070103 |
306 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773365211 CA85913587 |
310 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773365211 CA2680404 |
310 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745509201 CA355170096 |
311 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214673593 CA355170098 |
311 | Y>F | No |
ClinGen TOPMed |
|
|
CA355170092 rs1254365995 |
312 | L>P | No |
ClinGen gnomAD |
|
|
CA2680401 rs770415901 |
315 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1317843920 CA355170048 |
319 | M>K | No |
ClinGen gnomAD |
|
|
rs1317843920 CA355170047 |
319 | M>T | No |
ClinGen gnomAD |
|
|
rs11923380 CA2680400 VAR_034695 |
319 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs377372657 CA2680399 |
320 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355170032 rs1406916782 |
321 | H>R | No |
ClinGen TOPMed |
|
|
CA2680398 rs769601724 |
321 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2680396 rs780936966 |
322 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331837044 CA355170026 |
322 | S>T | No |
ClinGen gnomAD |
|
|
rs750649678 CA2680394 |
324 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs924286889 CA85913524 |
325 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 325 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34823544 CA85913505 VAR_034696 |
329 | L>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1423448885 CA355169978 |
330 | E>Q | No |
ClinGen TOPMed |
|
|
rs754319869 CA2680391 |
331 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 332 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680390 rs764707629 COSM1420253 |
333 | S>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM33450 CA355169953 rs1438744949 |
333 | S>I | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs759276325 CA2680386 |
334 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs759276325 CA2680387 |
334 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2680388 rs753177790 |
334 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2680385 rs773985894 |
335 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2680384 rs770380500 |
335 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781024966 CA2680379 |
336 | D>G | No |
ClinGen ExAC |
|
|
CA2680380 rs147644993 |
336 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2680381 rs147644993 |
336 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2680377 rs768386256 |
337 | T>N | No |
ClinGen ExAC |
|
|
CA2680375 rs779143424 |
338 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs757394631 CA2680374 |
338 | F>S | No |
ClinGen ExAC |
|
|
rs1299127496 CA355169914 |
341 | I>V | No |
ClinGen TOPMed |
|
|
CA85913415 rs199718095 |
346 | S>R | No |
ClinGen Ensembl |
|
|
rs1444337314 CA355169861 |
348 | D>V | No |
ClinGen gnomAD |
|
|
CA2680367 rs35554741 |
349 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777994818 CA2680369 |
349 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1326547245 CA355169857 |
349 | I>V | No |
ClinGen gnomAD |
|
|
rs767998167 CA2680366 COSM3380448 |
351 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759906036 CA2680365 COSM729492 |
351 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA355169835 rs1439513830 |
352 | M>I | No |
ClinGen gnomAD |
|
|
CA2680364 rs575966134 |
352 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355169838 rs1177115758 |
352 | M>T | No |
ClinGen gnomAD |
|
|
CA85913376 rs932208897 |
353 | S>N | No |
ClinGen TOPMed |
|
|
rs766106921 CA2680363 |
354 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA355169820 rs1464099508 |
354 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85913351 rs75463694 |
357 | T>P | No |
ClinGen Ensembl |
|
|
rs772849491 CA2680359 COSM1040420 |
358 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA355169790 rs1208741212 |
359 | I>T | No |
ClinGen gnomAD |
|
|
CA85913325 rs961673685 |
359 | I>V | No |
ClinGen TOPMed |
|
|
rs776488445 CA2680356 |
361 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768457916 CA2680355 |
363 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746865948 CA2680354 |
363 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA355169763 rs1443571392 |
364 | T>A | No |
ClinGen TOPMed |
|
|
CA355169760 rs1160968430 |
364 | T>N | No |
ClinGen TOPMed |
|
|
CA85913294 rs970724041 |
365 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM3784366 CA2680353 VAR_034697 rs16827563 |
365 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1329264685 CA355169751 |
366 | Q>R | No |
ClinGen gnomAD |
|
|
rs771247955 CA2680352 |
367 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA355169743 rs1420353056 |
368 | E>K | No |
ClinGen gnomAD |
|
|
CA2680350 rs778011033 |
372 | A>T | No |
ClinGen ExAC |
|
|
CA2680349 rs756195462 |
374 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355169658 rs1305238586 |
379 | I>V | No |
ClinGen TOPMed |
|
|
rs1190864845 CA355169649 |
380 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA355169637 rs1280585987 COSM3940359 |
382 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA355169626 rs1237666655 |
383 | I>T | No |
ClinGen gnomAD |
|
|
rs780484401 CA2680326 COSM3427270 |
385 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 387 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758627554 CA2680325 |
390 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355169559 rs1238685720 |
393 | K>E | No |
ClinGen TOPMed |
|
|
CA2680324 rs750110974 |
394 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218066913 CA355169542 |
395 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2680323 rs138456629 |
395 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355169546 rs1352394665 |
395 | I>V | No |
ClinGen TOPMed |
|
|
rs756868680 CA2680322 |
396 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1380216486 CA355169541 |
396 | V>I | No |
ClinGen gnomAD |
|
|
CA355169519 rs1446305009 |
399 | N>T | No |
ClinGen gnomAD |
|
|
rs753410616 CA85903143 |
402 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753410616 CA2680321 |
402 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355169496 rs1197920926 |
402 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 402 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355169490 rs1467700034 |
403 | E>* | No |
ClinGen gnomAD |
|
|
CA2680317 rs767375080 |
407 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA355169452 rs1414098059 |
408 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA85903134 rs745608559 |
409 | I>T | No |
ClinGen Ensembl |
|
|
CA355169441 rs1444724633 |
410 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 410 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759356110 CA2680316 |
410 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2680315 rs774266572 |
412 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355169409 rs1425403105 |
414 | D>E | No |
ClinGen TOPMed |
|
|
CA2680314 rs560830784 |
415 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762123001 CA2680313 |
416 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA355169399 rs1388857111 |
416 | I>V | No |
ClinGen TOPMed |
|
|
rs573123156 CA2680312 |
417 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768563571 CA2680311 |
419 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs377759596 CA2680310 |
420 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377759596 CA355169373 |
420 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 422 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680309 rs780388247 |
422 | T>N | No |
ClinGen ExAC |
|
|
rs772512643 CA2680308 |
423 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA355169353 rs1559995826 |
423 | P>L | No |
ClinGen Ensembl |
|
|
CA85903049 rs772512643 COSM402380 |
423 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs144626872 CA2680307 |
424 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 426 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680305 rs756958564 |
426 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355169335 rs1445173290 |
427 | R>G | No |
ClinGen TOPMed |
|
|
CA2680304 rs753429035 |
429 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs755539373 CA2680303 |
430 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2680302 rs755539373 |
430 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1331207892 CA355169269 |
437 | E>K | No |
ClinGen gnomAD |
|
|
rs778931697 CA85903021 |
437 | E>V | No |
ClinGen Ensembl |
|
|
CA355169261 rs1461057569 |
438 | E>K | No |
ClinGen gnomAD |
|
|
rs1349887980 CA355169254 |
439 | R>G | No |
ClinGen gnomAD |
|
|
CA355169252 rs1322706800 |
439 | R>K | No |
ClinGen gnomAD |
|
|
CA355169247 rs1166286011 |
440 | K>E | No |
ClinGen gnomAD |
|
|
rs1421747007 CA355169243 |
440 | K>T | No |
ClinGen gnomAD |
|
|
CA2680300 rs374503606 |
441 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 441 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355169232 rs1179065154 |
442 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1577452361 CA355169221 |
443 | R>K | No |
ClinGen Ensembl |
|
|
CA355169210 rs1441270549 |
445 | N>H | No |
ClinGen gnomAD |
|
|
rs370118167 CA2680299 |
446 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1189578969 CA355169174 |
448 | K>R | No |
ClinGen gnomAD |
|
|
CA355169121 rs1221375748 |
455 | M>I | No |
ClinGen gnomAD |
|
|
rs1218989852 CA355169125 |
455 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372763241 CA2680281 |
458 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2680279 rs780750298 |
459 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs201025388 CA2680277 |
460 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1384590048 CA355169084 |
461 | G>V | No |
ClinGen gnomAD |
|
|
CA355169062 rs113924904 |
464 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1000509565 CA85902675 |
465 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs150966508 CA2680275 |
465 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2680273 rs143505735 |
466 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143505735 CA355169057 |
466 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs537695227 CA85902668 |
466 | E>V | No |
ClinGen Ensembl |
|
|
rs771948156 CA2680272 |
467 | D>V | No |
ClinGen ExAC |
|
|
CA85902664 rs959048301 |
468 | E>G | No |
ClinGen Ensembl |
|
|
rs1379324337 CA355169043 |
468 | E>K | No |
ClinGen gnomAD |
|
|
CA2680271 rs760943328 |
470 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA355169027 rs1353119120 |
470 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2680269 rs767524980 |
472 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1035663090 COSM729494 CA85902648 |
473 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA355168991 rs1261259324 |
476 | S>G | No |
ClinGen gnomAD |
|
|
rs1201419481 CA355168988 |
476 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1481194915 CA355168971 |
478 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 481 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680267 rs148842773 |
485 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355168924 rs1254778318 |
486 | G>S | No |
ClinGen gnomAD |
|
|
CA85902626 rs77014025 |
487 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 488 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680263 rs373769969 |
493 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373769969 CA355168874 |
493 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2680264 rs145016554 |
493 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355168872 rs1396408330 |
494 | F>L | No |
ClinGen gnomAD |
|
|
rs1404005417 CA355168851 |
496 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1404005417 CA355168853 |
496 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1425152728 CA355168837 |
498 | T>I | No |
ClinGen TOPMed |
|
|
COSM729495 rs558817084 CA2680261 |
499 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2680260 rs115603959 |
500 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355168820 rs59504298 |
501 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_061683 CA2680259 rs59504298 |
501 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2680257 rs374249440 |
502 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780095027 CA2680258 |
502 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680256 rs750247365 |
503 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs138781624 CA2680255 |
506 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890877657 CA85902537 |
507 | S>A | No |
ClinGen Ensembl |
|
|
rs147639743 CA2680253 |
510 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA85902528 rs112684744 |
511 | P>S | No |
ClinGen Ensembl |
|
|
rs752894800 CA2680252 |
512 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680251 rs145377938 |
512 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2680250 rs139246642 |
512 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145377938 CA355168757 |
512 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 513 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355168738 rs1430941170 |
515 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA355168737 rs1430941170 |
515 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1457705675 CA355168716 |
518 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 521 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680248 rs11918974 VAR_034698 |
522 | S>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1400979825 CA355168651 |
527 | E>D | No |
ClinGen gnomAD |
|
|
rs914708882 CA85902496 |
527 | E>G | No |
ClinGen gnomAD |
|
|
rs184952229 CA355168638 |
529 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184952229 CA2680247 |
529 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770139841 CA2680245 |
531 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1412622952 CA355168609 |
533 | T>S | No |
ClinGen TOPMed |
|
|
CA355168604 rs1477990932 |
534 | P>L | No |
ClinGen TOPMed |
|
|
CA2680244 rs141481693 |
537 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2680243 rs148731684 |
537 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779683954 CA2680240 |
540 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746570955 CA2680241 |
540 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758321163 CA2680239 |
541 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs561429206 CA2680238 |
544 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1214754771 CA355168533 |
545 | D>G | No |
ClinGen gnomAD |
|
|
CA2680237 rs778589629 |
545 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA355168519 rs1209889433 |
547 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1209889433 CA355168520 |
547 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355168511 rs1341378404 |
548 | Y>C | No |
ClinGen TOPMed |
|
|
CA2680236 rs757030647 |
549 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680235 rs752896071 |
551 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs147379083 CA2680234 |
552 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355168475 rs1440013542 |
553 | K>I | No |
ClinGen gnomAD |
|
|
CA355168471 rs1577449134 |
554 | N>D | No |
ClinGen Ensembl |
|
|
rs751696707 CA2680232 |
554 | N>K | No |
ClinGen ExAC TOPMed |
|
|
rs1220268504 CA355168468 |
554 | N>S | No |
ClinGen TOPMed |
|
| rs756863093 | 554 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324333790 CA355168450 |
557 | K>E | No |
ClinGen gnomAD |
|
|
CA355168441 rs1488412262 |
558 | V>M | No |
ClinGen TOPMed |
|
|
CA85902380 rs142947713 |
561 | Y>* | No |
ClinGen ESP TOPMed |
|
|
rs750882842 CA2680227 |
561 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA85902373 rs973956823 |
562 | A>V | No |
ClinGen Ensembl |
|
|
rs765539970 CA85902370 |
563 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765539970 CA2680226 |
563 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355168363 rs1382626190 |
569 | I>S | No |
ClinGen gnomAD |
|
|
CA355168367 rs1577448974 |
569 | I>V | No |
ClinGen Ensembl |
|
|
rs768468374 CA2680223 |
572 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs377370246 CA2680221 |
573 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 573 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760403450 CA2680222 |
573 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs771556304 CA2680220 |
575 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 575 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680219 rs200090995 |
576 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355168314 rs1287963997 |
577 | I>T | No |
ClinGen gnomAD |
|
|
rs775237617 CA2680203 |
580 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 582 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355167676 TCGA novel rs1006553232 |
582 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
| TCGA novel | 582 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680202 rs771515228 |
583 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680200 rs773713324 |
584 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA2680198 rs749218276 |
588 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377246571 CA2680197 |
589 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769519172 CA2680196 |
589 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293963882 CA355167618 |
591 | T>N | No |
ClinGen TOPMed |
|
|
CA355167602 rs1559952824 |
593 | S>F | No |
ClinGen Ensembl |
|
|
rs747252298 COSM729499 CA2680195 |
596 | G>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs79640484 CA85912287 |
598 | Y>S | No |
ClinGen Ensembl |
|
|
rs138502294 CA2680194 |
599 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372901665 CA2680192 |
601 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1184339454 CA355167556 |
601 | Y>H | No |
ClinGen gnomAD |
|
|
CA2680191 rs145883418 |
602 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145883418 CA355167546 |
602 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA85912268 rs973675659 |
605 | S>G | No |
ClinGen TOPMed |
|
|
rs757848286 CA2680190 |
605 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142211157 CA2680189 |
608 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 608 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680188 rs369392385 |
615 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2680187 rs369392385 |
615 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2680186 rs753081802 |
616 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1320017686 CA355167452 |
616 | W>R | No |
ClinGen gnomAD |
|
|
rs1214273135 CA355167439 |
617 | I>M | No |
ClinGen gnomAD |
|
|
rs767250191 CA2680185 |
619 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355167421 rs1559952617 |
620 | M>T | No |
ClinGen Ensembl |
|
|
CA2680184 rs759097393 |
621 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355167412 rs1450865820 |
621 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 622 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409029802 CA355167319 |
626 | S>C | No |
ClinGen gnomAD |
|
|
CA2680165 rs765895036 |
630 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355167290 rs1220977108 |
630 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2680163 rs772676254 |
631 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2680164 rs772676254 |
631 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs369950845 CA2680161 |
632 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776551516 CA2680160 |
632 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA355167270 rs369950845 |
632 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2680159 rs768281517 |
633 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355167226 rs1159011255 |
636 | S>N | No |
ClinGen gnomAD |
|
|
CA355167170 rs1488818888 |
641 | F>L | No |
ClinGen gnomAD |
|
|
CA2680156 rs774399963 |
642 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771250203 CA2680155 |
645 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA2680154 rs749429753 |
645 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287255964 CA355167103 |
647 | E>* | No |
ClinGen gnomAD |
|
|
CA2680153 rs777988696 |
648 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1416967839 CA355167065 |
650 | Q>R | No |
ClinGen TOPMed |
|
|
rs1306853886 CA355167053 |
651 | A>E | No |
ClinGen gnomAD |
|
|
rs201853660 CA2680150 |
652 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2680151 rs201853660 COSM479632 |
652 | G>E | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2680146 rs758021550 |
653 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355167041 rs751255288 |
653 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680148 rs751255288 |
653 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680147 rs758021550 |
653 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355167017 rs1430434674 |
655 | H>Q | No |
ClinGen TOPMed |
|
|
rs867444596 CA85909860 |
655 | H>Y | No |
ClinGen Ensembl |
|
|
rs998679382 CA85909852 |
656 | S>C | No |
ClinGen TOPMed |
|
|
rs749989811 CA2680145 |
661 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680144 rs764719130 |
663 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2680143 rs761810960 |
664 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs763985722 CA2680141 |
665 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1335259202 CA355166885 |
668 | Q>K | No |
ClinGen TOPMed |
|
|
CA2680140 rs760430183 |
668 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA355164320 rs1480123199 |
674 | Q>* | No |
ClinGen gnomAD |
|
|
rs750007931 CA2680128 |
675 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750007931 CA355164313 |
675 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344229479 CA355164307 |
676 | Q>* | No |
ClinGen TOPMed |
|
|
CA355164299 rs1426957907 |
677 | L>F | No |
ClinGen gnomAD |
|
|
CA2680127 rs137926649 |
677 | L>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355164285 rs1463081483 |
679 | L>Q | No |
ClinGen gnomAD |
|
|
COSM1270197 rs756686353 CA2680126 |
681 | E>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs763990830 CA355164266 |
682 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680124 rs763990830 |
682 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680125 rs753360589 |
682 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA85892462 rs201808320 |
683 | R>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1229237732 CA355164258 |
684 | F>L | No |
ClinGen gnomAD |
|
|
rs926894744 CA85892447 |
685 | F>C | No |
ClinGen gnomAD |
|
|
CA355164246 rs926894744 |
685 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 685 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982297975 CA85892429 |
686 | D>V | No |
ClinGen gnomAD |
|
|
rs767354091 CA2680121 |
687 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355164209 rs984551424 |
691 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA85892421 rs984551424 |
691 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778137785 CA85892415 |
693 | T>I | No |
ClinGen Ensembl |
|
|
rs773518558 CA2680119 |
694 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs769947844 CA2680118 |
694 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2680117 rs372124270 |
695 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA85892395 rs963513100 |
697 | W>R | No |
ClinGen gnomAD |
|
|
rs368198281 CA85892389 |
698 | Q>R | No |
ClinGen ESP |
|
|
rs916232303 CA355164158 |
699 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA85892348 rs916232303 |
699 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1318371597 CA355164140 |
701 | M>T | No |
ClinGen gnomAD |
|
|
rs1016179157 CA85892342 |
703 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs769098759 CA2680115 |
705 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1273160676 CA355164112 |
705 | P>S | No |
ClinGen gnomAD |
|
|
rs1273160676 COSM1566618 CA355164111 |
705 | P>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1378977063 TCGA novel CA355164101 |
706 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA2680114 rs747544397 |
708 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2680086 rs754942549 |
710 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs751456807 CA2680085 |
714 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA85874972 rs111927722 |
717 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680083 rs111927722 |
717 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754029331 CA2680082 |
719 | I>M | No |
ClinGen ExAC |
|
| TCGA novel | 719 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199485556 CA355161683 |
720 | E>* | No |
ClinGen gnomAD |
|
|
rs1481235246 CA355161676 |
720 | E>D | No |
ClinGen gnomAD |
|
|
rs1199485556 CA355161685 |
720 | E>K | No |
ClinGen gnomAD |
|
|
CA355161658 CA355161656 rs7652298 |
722 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2680080 rs760788456 |
724 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203386762 CA355161612 |
726 | K>R | No |
ClinGen gnomAD |
|
|
CA355161606 rs1395763766 |
727 | Q>* | No |
ClinGen TOPMed |
|
|
rs376189512 CA2680078 |
729 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1446526435 CA355161584 |
729 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1225386870 CA355161569 |
730 | W>* | No |
ClinGen gnomAD |
|
|
rs1284055598 CA355161572 |
730 | W>* | No |
ClinGen gnomAD |
|
|
rs760034597 CA2680077 |
732 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355161523 rs1282821676 |
734 | K>T | No |
ClinGen gnomAD |
|
|
CA355161497 rs1347388192 |
736 | W>* | No |
ClinGen gnomAD |
|
|
rs1288442255 CA355161500 |
736 | W>R | No |
ClinGen TOPMed |
|
|
CA355161489 rs1330518768 |
737 | K>E | No |
ClinGen TOPMed |
|
|
CA2680074 rs151166199 |
739 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151166199 CA85874915 |
739 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2680073 rs748206479 |
739 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs151166199 CA2680075 |
739 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769539165 CA2680072 |
743 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1046302072 CA85874879 |
744 | A>T | No |
ClinGen gnomAD |
|
|
rs1481102374 CA355161395 |
746 | N>S | No |
ClinGen gnomAD |
|
|
rs1426781565 CA355161355 |
750 | F>L | No |
ClinGen gnomAD |
|
|
rs747709205 CA2680071 |
753 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1452010959 CA355161311 |
754 | K>Q | No |
ClinGen TOPMed |
|
|
rs1243689549 CA355161307 |
754 | K>T | No |
ClinGen gnomAD |
|
|
rs1446392601 CA355161295 |
755 | S>C | No |
ClinGen gnomAD |
|
|
CA355161299 rs1190728393 |
755 | S>T | No |
ClinGen gnomAD |
|
|
rs776282993 CA2680053 |
761 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2680052 rs768221097 |
763 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA355160833 rs768221097 |
763 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs887751889 CA85872001 |
763 | P>S | No |
ClinGen TOPMed |
|
|
CA2680050 rs779999024 |
764 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA355160828 rs1442240325 |
764 | I>M | No |
ClinGen gnomAD |
|
|
rs775460207 CA2680051 |
764 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 767 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680049 rs771884953 |
767 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2680048 rs745735702 |
768 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2680046 rs778679224 |
769 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA85871930 rs772070275 |
770 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756337672 CA2680045 |
772 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 773 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2680043 rs369831867 |
774 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369831867 CA355160765 |
774 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355160757 rs1231397163 |
775 | V>A | No |
ClinGen gnomAD |
|
|
CA355160756 rs1231397163 |
775 | V>G | No |
ClinGen gnomAD |
|
|
CA85871906 rs933475829 |
776 | A>T | No |
ClinGen Ensembl |
|
|
CA355160750 rs1184304885 |
777 | K>E | No |
ClinGen TOPMed |
|
|
COSM729501 rs377432189 CA2680040 |
779 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2680041 rs377432189 |
779 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146047352 CA2680039 |
779 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765629459 CA2680037 |
780 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776371982 CA2680035 |
781 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs761566891 CA2680036 |
781 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2680032 rs199678437 |
782 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2680034 rs199678437 |
782 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2680031 rs772118619 |
782 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680033 rs199678437 |
782 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200528563 CA2680029 |
783 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200528563 CA2680030 |
783 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187649383 CA2680028 |
785 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA85871789 rs896732384 |
785 | P>T | No |
ClinGen TOPMed |
|
|
rs142149743 CA2680025 |
786 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781434939 CA2680026 |
786 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779993474 CA355160697 |
787 | A>G | No |
ClinGen ExAC |
|
|
rs747169090 CA2680024 |
787 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779993474 CA2680022 |
787 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA355160687 rs1181522325 COSM1176793 |
789 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2680020 rs147651221 |
793 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355160647 rs1271265089 |
794 | N>I | No |
ClinGen gnomAD |
|
|
rs771350780 CA2680019 |
795 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2680018 rs757653945 |
796 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757653945 CA355160633 |
796 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs145306147 CA355160626 |
797 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355160620 rs1218630621 |
798 | V>A | No |
ClinGen gnomAD |
|
|
CA2680016 rs763900534 |
799 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs201514039 CA2680013 |
801 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199684125 CA2680014 |
801 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355160598 rs1284739706 |
802 | K>E | No |
ClinGen gnomAD |
|
|
rs759540787 CA2680012 |
802 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1289214726 CA355160578 |
804 | E>D | No |
ClinGen gnomAD |
|
|
CA2680011 rs774232857 |
804 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455326254 CA355160570 |
805 | K>N | No |
ClinGen gnomAD |
|
|
CA2680009 rs749132118 |
807 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA2680010 rs770825804 |
807 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355160561 rs770825804 |
807 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355160555 rs1470315614 |
808 | E>* | No |
ClinGen gnomAD |
|
|
CA355160557 rs1470315614 |
808 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 809 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772976131 CA2680008 |
809 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA2680007 rs768987989 |
810 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA355160542 rs1197620355 |
810 | W>R | No |
ClinGen gnomAD |
|
|
rs758357645 CA2680004 |
813 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85871623 rs951226277 |
813 | C>Y | No |
ClinGen Ensembl |
|
|
rs1207575091 CA355160514 |
814 | I>L | No |
ClinGen gnomAD |
|
|
rs112208143 CA85871619 |
814 | I>T | No |
ClinGen Ensembl |
|
|
CA355160503 rs995258016 |
815 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2680003 rs148475019 |
815 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202131330 CA2680002 |
816 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1330122822 CA355160486 |
818 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1330122822 CA355160485 |
818 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1231658691 CA355160489 |
818 | V>L | No |
ClinGen gnomAD |
|
|
CA355160482 rs1577168822 |
819 | A>P | No |
ClinGen Ensembl |
|
|
CA355160471 rs1317039622 |
820 | Q>H | No |
ClinGen TOPMed |
|
|
rs1577168808 CA355160478 |
820 | Q>K | No |
ClinGen Ensembl |
|
|
rs1296074210 CA355160473 |
820 | Q>P | No |
ClinGen gnomAD |
|
|
CA355160467 rs1383662550 |
821 | A>G | No |
ClinGen gnomAD |
|
|
CA2680001 rs757829713 |
825 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754324227 CA2680000 |
827 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453284906 CA355160424 |
827 | R>T | No |
ClinGen gnomAD |
|
|
CA2679999 rs764302428 |
828 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1408463807 CA355160419 |
828 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA85871550 rs35280249 |
830 | T>P | No |
ClinGen Ensembl |
|
|
CA355160401 rs1482211628 |
831 | T>A | No |
ClinGen TOPMed |
|
|
CA85871548 rs946498529 |
831 | T>I | No |
ClinGen TOPMed |
|
|
rs1559903436 CA355160396 |
832 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 833 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q14D04
1 regional properties for Q14D04
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Pleckstrin homology domain | 716 - 821 | IPR001849 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol-5-phosphate binding | Binding to phosphatidylinositol-5-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 5' position. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of SMAD protein signal transduction | Any process that decreases the rate, frequency or extent of the SMAD protein signaling pathway. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways. |
| negative regulation of transforming growth factor beta receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway. |
| regulation of signal transduction | Any process that modulates the frequency, rate or extent of signal transduction. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHQLFRLVLG | QKDLSRAGDL | FSLDDSEIED | SLTEALEQIK | IISSSSDYQT | NNNDQAVVEI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CITRITTAIR | ETESIEKHAK | ALVGLWDSCL | EHNLRPFGKD | EDTPHAKIAS | DIMSCILQNY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NRPPVMALAI | PIAVKFLHRG | NKELCRNMSN | YLSLAAITKA | DLLADHTEVI | VKSILQGNTM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLRVLPAVYE | KQPQPINRHL | TELLALMSQL | EQPEQYHLLR | LLHVAAKKKQ | LEVVQKCIPF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LIGHLKDSTH | NDIILNILIE | IAVYEPVALN | SFLPMLKEIG | ERFPYLTGQM | ARIYGAVGHV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DEERARSCLT | YLVSQLANME | HSFHHILLLE | IKSITDTFSS | ILGPQSRDIF | RMSNSFTAIA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KLLTRQLENT | KAGSGRRKIS | TEIEFPEKLE | ETKLIVTENE | DHEKLQVKIQ | AFEDKINAGS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NTPGSIRRYS | LGQVSKEERK | NIRFNRSKSL | AFHTMLTKGV | GSDDGEDENR | GDIPASISLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EIDPLGQGND | KLPFKTDTER | SQLGESSVSY | PNIIHIDSEN | LSETVKENSQ | EETPETTASP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IEYQDKLYLH | LKKNLSKVKA | YAMEIGKKIP | VPDQCTIEDT | VRSCVAKLFF | TCSLKGHYCL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YSKSSFILIS | QEPQPWIQIM | FLFQQSLFPE | PLSIQSHSVQ | FLRALWEKTQ | AGGAHSFETA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MMESTFPQQK | DLDQVQLHLE | EVRFFDVFGF | SETAGAWQCF | MCNNPEKATV | VNQDGQPLIE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GKLKEKQVRW | KFIKRWKTRY | FTLAGNQLLF | QKGKSKDDPD | DCPIELSKVQ | SVKAVAKKRR |
| 790 | 800 | 810 | 820 | 830 | |
| DRSLPRAFEI | FTDNKTYVFK | AKDEKNAEEW | LQCINVAVAQ | AKERESREVT | TYL |